A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217878



Internal ID22363406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243450535..243483383hg38UCSC Ensembl
Outerchr1:243613837..243646685hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272060, nssv14272059
SamplesHG00512, HG00732
Known GenesSDCCAG8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217878
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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